Is there an agreement between self-reported medical diagnosis in the CARTaGENE cohort and the Québec administrative health databases?

by Yves Payette, Cristiano Soares de Moura, Catherine Boileau, Sasha Bernatsky, Nolwenn Noisel
Published 2020-03-01

Reference Expression Profile of Three <i>FBN1</i> Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome

by Louise Benarroch, Mélodie Aubart, Marie-Sylvie Gross, Pauline Arnaud, Nadine Hanna, Guillaume Jondeau, Catherine Boileau
Published 2019-02-01

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

by Louise Benarroch, Mélodie Aubart, Marie-Sylvie Gross, Marie-Paule Jacob, Pauline Arnaud, Nadine Hanna, Guillaume Jondeau, Catherine Boileau
Published 2018-08-01

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

by Thomas Grange, Mélodie Aubart, Maud Langeois, Louise Benarroch, Pauline Arnaud, Olivier Milleron, Ludivine Eliahou, Marie-Sylvie Gross, Nadine Hanna, Catherine Boileau, Laurent Gouya, Guillaume Jondeau
Published 2020-05-01

A new KIF5B–ERBB4 gene fusion in a lung adenocarcinoma patient

by Edouard Guenzi, Johan Pluvy, Alice Guyard, Marina Nguenang, Khedidja Rebah, Zoubida Benrahmoune, Jérome Lamoril, Aurelie Cazes, Valérie Gounant, Solenn Brosseau, Catherine Boileau, Gérard Zalcman, Nathalie Théou-Anton
Published 2021-03-01

Core-Shell Polymer-Based Nanoparticles Deliver miR-155-5p to Endothelial Cells

by Joana C. Antunes, Louise Benarroch, Fernanda C. Moraes, Maya Juenet, Marie-Sylvie Gross, Mélodie Aubart, Catherine Boileau, Giuseppina Caligiuri, Antonino Nicoletti, Véronique Ollivier, Frédéric Chaubet, Didier Letourneur, Cédric Chauvierre
Published 2019-09-01

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

by Bertrand Chesneau, Thomas Edouard, Yves Dulac, Hélène Colineaux, Maud Langeois, Nadine Hanna, Catherine Boileau, Pauline Arnaud, Nicolas Chassaing, Sophie Julia, Guillaume Jondeau, Aurélie Plancke, Philippe Khau Van Kien, Julie Plaisancié
Published 2020-05-01

Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison

by Spyros A. Papiris, Panagiotis Tsirigotis, Caroline Kannengiesser, Lykourgos Kolilekas, Konstantinos Gkirkas, Andriana I. Papaioannou, Patrick Revy, Paschalina Giouleka, Georgia Papadaki, Konstantinos Kagouridis, Vassiliki Pappa, Raphael Borie, Catherine Boileau, Demosthenes Bouros, Bruno Crestani, Effrosyni D. Manali
Published 2019-08-01

Identification of a Variant in <i>APOB</i> Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families

by Carine Ayoub, Yara Azar, Yara Abou-Khalil, Youmna Ghaleb, Sandy Elbitar, Georges Halaby, Selim Jambart, Marie-Hélène Gannagé-Yared, Cesar Yaghi, Carole Saade Riachy, Ralph El Khoury, Jean-Pierre Rabès, Mathilde Varret, Catherine Boileau, Petra El Khoury, Marianne Abifadel
Published 2021-08-01

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.

by Mélodie Aubart, Delphine Gobert, Fleur Aubart-Cohen, Delphine Detaint, Nadine Hanna, Hyacintha d'Indya, Janine-Sophie Lequintrec, Philippe Renard, Anne-Marie Vigneron, Philippe Dieudé, Jean-Pierre Laissy, Pierre Koch, Christine Muti, Joelle Roume, Veronica Cusin, Bernard Grandchamp, Laurent Gouya, Eric LeGuern, Thomas Papo, Catherine Boileau, Guillaume Jondeau
Published 2014-01-01

Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) – a Pan Canadian cohort study

by Sonia S. Anand, Jack V. Tu, Philip Awadalla, Sandra Black, Catherine Boileau, David Busseuil, Dipika Desai, Jean-Pierre Després, Russell J. de Souza, Trevor Dummer, Sébastien Jacquemont, Bartha Knoppers, Eric Larose, Scott A. Lear, Francois Marcotte, Alan R. Moody, Louise Parker, Paul Poirier, Paula J. Robson, Eric E. Smith, John J. Spinelli, Jean-Claude Tardif, Koon K. Teo, Natasa Tusevljak, Matthias G. Friedrich, on behalf of the CAHHM Study Investigators
Published 2016-07-01

Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.

by Yannick Allanore, Mohamad Saad, Philippe Dieudé, Jérôme Avouac, Jorg H W Distler, Philippe Amouyel, Marco Matucci-Cerinic, Gabriella Riemekasten, Paolo Airo, Inga Melchers, Eric Hachulla, Daniele Cusi, H-Erich Wichmann, Julien Wipff, Jean-Charles Lambert, Nicolas Hunzelmann, Kiet Tiev, Paola Caramaschi, Elisabeth Diot, Otylia Kowal-Bielecka, Gabriele Valentini, Luc Mouthon, László Czirják, Nemanja Damjanov, Erika Salvi, Costanza Conti, Martina Müller, Ulf Müller-Ladner, Valeria Riccieri, Barbara Ruiz, Jean-Luc Cracowski, Luc Letenneur, Anne Marie Dupuy, Oliver Meyer, André Kahan, Arnold Munnich, Catherine Boileau, Maria Martinez
Published 2011-07-01